A P Monaco

Summary

Affiliation: University of Oxford
Country: UK

Publications

  1. pmc CMIP and ATP2C2 modulate phonological short-term memory in language impairment
    Dianne F Newbury
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Am J Hum Genet 85:264-72. 2009
  2. pmc Recent advances in the genetics of language impairment
    Dianne F Newbury
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford OX3 7BN, UK
    Genome Med 2:6. 2010
  3. pmc Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects
    D F Newbury
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford OX3 7BN, UK
    Behav Genet 41:90-104. 2011
  4. ncbi Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium
    E Maestrini
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Am J Med Genet 88:492-6. 1999
  5. ncbi Investigation of quantitative measures related to reading disability in a large sample of sib-pairs from the UK
    A J Marlow
    Wellcome Trust Centre for Human Genetics, University of Oxford, United Kingdom
    Behav Genet 31:219-30. 2001
  6. pmc Analysis of dyslexia candidate genes in the Raine cohort representing the general Australian population
    S Paracchini
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, United Kingdom
    Genes Brain Behav 10:158-65. 2011
  7. ncbi A sibling-pair based approach for mapping genetic loci that influence quantitative measures of reading disability
    C Francks
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Prostaglandins Leukot Essent Fatty Acids 63:27-31. 2000
  8. pmc Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects
    J A Lamb
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    J Med Genet 42:132-7. 2005
  9. pmc A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3
    L Addis
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Genes Brain Behav 9:545-61. 2010
  10. ncbi Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region
    E Bonora
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Mol Psychiatry 7:289-301. 2002

Collaborators

Detail Information

Publications24

  1. pmc CMIP and ATP2C2 modulate phonological short-term memory in language impairment
    Dianne F Newbury
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Am J Hum Genet 85:264-72. 2009
    ..This work therefore implicates CMIP and ATP2C2 in the etiology of SLI and provides molecular evidence for the importance of phonological short-term memory in language acquisition...
  2. pmc Recent advances in the genetics of language impairment
    Dianne F Newbury
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford OX3 7BN, UK
    Genome Med 2:6. 2010
    ..We discuss how characterization of these genes, and the pathways in which they are involved, may enhance our understanding of language disorders and improve our understanding of the biological foundations of language acquisition...
  3. pmc Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects
    D F Newbury
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford OX3 7BN, UK
    Behav Genet 41:90-104. 2011
    ..In addition, we find association between reading-related measures and variants in CNTNAP2 and CMIP in the SLI families...
  4. ncbi Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium
    E Maestrini
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Am J Med Genet 88:492-6. 1999
    ..No significant evidence of association or linkage was found at any of the markers tested, indicating that the 5-HTT and the GABRB3 genes are unlikely to play a major role in the aetiology of autism in our family data set...
  5. ncbi Investigation of quantitative measures related to reading disability in a large sample of sib-pairs from the UK
    A J Marlow
    Wellcome Trust Centre for Human Genetics, University of Oxford, United Kingdom
    Behav Genet 31:219-30. 2001
    ..68) supported their heritability. These findings demonstrate the viability of this sample for QTL mapping, and will assist in the interpretation of any subsequent linkage findings in an ongoing genome scan...
  6. pmc Analysis of dyslexia candidate genes in the Raine cohort representing the general Australian population
    S Paracchini
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, United Kingdom
    Genes Brain Behav 10:158-65. 2011
    ..The high linkage disequilibrium (LD) we observed across the DYX1C1 gene suggests that the association signal might not be refined by further genetic mapping...
  7. ncbi A sibling-pair based approach for mapping genetic loci that influence quantitative measures of reading disability
    C Francks
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Prostaglandins Leukot Essent Fatty Acids 63:27-31. 2000
    ..3 influences reading disability...
  8. pmc Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects
    J A Lamb
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    J Med Genet 42:132-7. 2005
    ..Here, we report analysis of an expanded sample of 219 ASP, using sex and parent of origin linkage modelling at loci on chromosomes 2, 7, 9, 15, and 16...
  9. pmc A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3
    L Addis
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Genes Brain Behav 9:545-61. 2010
    ..Several genes in this region of chromosome 12 which are potentially implicated in language impairment did not contain polymorphisms likely to be the causative mutation, which is as yet unknown...
  10. ncbi Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region
    E Bonora
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Mol Psychiatry 7:289-301. 2002
    ..The analysis of these four genes strongly suggests that they do not play a major role in autism aetiology, and delineates our strategy to screen additional candidate genes in the AUTS1 locus...
  11. pmc Genetic advances in the study of speech and language disorders
    D F Newbury
    Wellcome Trust Centre for Human Genetics, Headington, Oxford, UK
    Neuron 68:309-20. 2010
    ....
  12. ncbi Analysis of reelin as a candidate gene for autism
    E Bonora
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Mol Psychiatry 8:885-92. 2003
    ..The analysis of RELN suggests that it probably does not play a major role in autism aetiology, although further analysis of several missense mutations is warranted in additional affected individuals...
  13. ncbi Analysis of the human VPS13 gene family
    Antonio Velayos-Baeza
    Wellcome Trust Centre for Human Genetics, University of Oxford, Headington, OX3 7BN Oxford, UK
    Genomics 84:536-49. 2004
    ..Protein sequence comparisons suggest that intramolecular duplications have played an important role in the evolution of this gene family...
  14. doi Detection, breakpoint identification and detailed characterisation of a CNV at the FRA16D site using SNP assays
    L Winchester
    Genomics, Wellcome Trust Centre for Human Genetics, Oxford, UK
    Cytogenet Genome Res 123:322-32. 2008
    ..A long-range PCR assay was used to confirm the existence of the deletion. We also show the breakpoint identification and large-scale characterisation of this CNV in a normal human sample set...
  15. pmc LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia
    C Francks
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Mol Psychiatry 12:1129-39, 1057. 2007
    ..LRRTM1 is a candidate gene for involvement in several common neurodevelopmental disorders, and may have played a role in human cognitive and behavioral evolution...
  16. ncbi Electronic identification and chromosomal assignment by radiation hybrid mapping of human expressed sequence tags corresponding to new potassium channel genes
    P Szepetowski
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Windmill Road, Headington, Oxford OX3 7BN, UK
    Neurogenetics 2:115-20. 1999
    ..The identification and mapping of all these genes will make them useful tools for mutation detection in neurological as well as other human diseases...
  17. ncbi Strategies for autism candidate gene analysis
    G Barnby
    Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Headington, Oxford OX3 7BN, UK
    Novartis Found Symp 251:48-63; discussion 63-9, 109-11, 281-97. 2003
    ..Targeted genotyping of candidate gene variants in this large multiplex family sample will then be performed to confirm association with autism...
  18. ncbi Autism: recent molecular genetic advances
    J A Lamb
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Hum Mol Genet 9:861-8. 2000
    ..This review focuses on recent molecular investigations to identify susceptibility loci implicated in autistic disorder...
  19. ncbi Bivariate linkage scan for reading disability and attention-deficit/hyperactivity disorder localizes pleiotropic loci
    J Gayan
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    J Child Psychol Psychiatry 46:1045-56. 2005
    ....
  20. pmc FOXP2 is not a major susceptibility gene for autism or specific language impairment
    D F Newbury
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Am J Hum Genet 70:1318-27. 2002
    ..We conclude that coding-region variants in FOXP2 do not underlie the AUTS1 linkage and that the gene is unlikely to play a role in autism or more common forms of language impairment...
  21. ncbi Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis
    C Dobson-Stone
    The Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Eur J Hum Genet 10:773-81. 2002
    ..The CHAC protein product, chorein, appears to have a certain tolerance to amino-acid substitutions since only two out of nine substitutions described here appear to be pathogenic...
  22. ncbi Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy
    A Bolino
    Wellcome Trust Centre for Human Genetics, University of Oxford, OX3 7BN Oxford, England
    Neurogenetics 3:107-9. 2001
    ..Our results suggest that loss-of-function mutations in MTMR2 are preferentially associated with the CMT4B phenotype...
  23. ncbi Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3)
    A H Nemeth
    Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford, OX3 7BN, England
    Genomics 60:320-9. 1999
    ..Several of the other genes and ESTs located within the contig code for proteins implicated in normal brain development and function and are candidates for DYT3...
  24. ncbi Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment
    R Nudel
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Genes Brain Behav 13:418-29. 2014
    ..In summary, this study implicates parent-of-origin effects in language impairment, and adds an interesting new dimension to the emerging picture of shared genetic etiology across various neurodevelopmental disorders...